Resources:

• Research study: The senior author of Simpson et al. (2004), Andrew Crosby from London, England, is looking for cases of GM3 synthase deficiency outside the Amish community (where it was identified).  He has available a simple screen of blood gangliosides that will identify an affected individual (absence of GM3 ganglioside and its derivatives).  He is looking for blood samples from children who have a similar clinical profile and will run them for no charge.  If you have a patient who has an unexplained epileptic "encephalopathy" that may meet the overall clinical picture, please contact Dr. Crosby by email at:
  acrosby at ghms.ac.uk

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